FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2092181290> ?p ?o ?g. }

• W2092181290 endingPage "171" @default.
• W2092181290 startingPage "170" @default.
• W2092181290 abstract "Cone rod dystrophy 5 (CORD5) is an autosomal dominant retinal disease that primarily affects cone function. The locus has previously been mapped to human chromosome 17p12-p13 between the markers D17S926/D17S849 and D17S945/D17S804. One of our “unaffected” recombinant individual from family 1175 was subsequently found to cross through this interval. Reexamination revealed that he was in fact mildly affected. This expanded the minimum candidate region. Direct sequencing of the GUCY2D and other candidate genes within this interval was carried out on 2 American families affected with CORD5. There was an R838C missense mutation within the GUCY2D gene in one and a R838H missense mutation in another families. The previously reported mutations for CORD6 are clustered at the same position within the gene. These results indicate that both CORD5 (MIM# 600977) and CORD6 (MIM# 601777) are actually the same disease. We conclude that significant variability in expression and incomplete penetrance exists even within one family. © 2003 Wiley-Liss, Inc." @default.
• W2092181290 created "2016-06-24" @default.
• W2092181290 creator A5000955884 @default.
• W2092181290 creator A5003088706 @default.
• W2092181290 creator A5011864225 @default.
• W2092181290 creator A5018925205 @default.
• W2092181290 creator A5042786886 @default.
• W2092181290 creator A5043656018 @default.
• W2092181290 creator A5066326655 @default.
• W2092181290 creator A5068498276 @default.
• W2092181290 creator A5071636507 @default.
• W2092181290 creator A5079026897 @default.
• W2092181290 date "2003-01-27" @default.
• W2092181290 modified "2023-10-06" @default.
• W2092181290 title "Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance" @default.
• W2092181290 cites W1568552366 @default.
• W2092181290 cites W163498145 @default.
• W2092181290 cites W1967039514 @default.
• W2092181290 cites W1971707621 @default.
• W2092181290 cites W1985844587 @default.
• W2092181290 cites W1987029335 @default.
• W2092181290 cites W1988710781 @default.
• W2092181290 cites W199169081 @default.
• W2092181290 cites W2044998344 @default.
• W2092181290 cites W2046832483 @default.
• W2092181290 cites W2053204895 @default.
• W2092181290 cites W2054270410 @default.
• W2092181290 cites W2068775185 @default.
• W2092181290 cites W2087506885 @default.
• W2092181290 cites W2097382368 @default.
• W2092181290 cites W2118932332 @default.
• W2092181290 cites W2139454318 @default.
• W2092181290 cites W2148004446 @default.
• W2092181290 cites W2165170253 @default.
• W2092181290 cites W2314470532 @default.
• W2092181290 doi "https://doi.org/10.1002/humu.9109" @default.
• W2092181290 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12552567" @default.
• W2092181290 hasPublicationYear "2003" @default.
• W2092181290 type Work @default.
• W2092181290 sameAs 2092181290 @default.
• W2092181290 citedByCount "33" @default.
• W2092181290 countsByYear W20921812902012 @default.
• W2092181290 countsByYear W20921812902013 @default.
• W2092181290 countsByYear W20921812902015 @default.
• W2092181290 countsByYear W20921812902016 @default.
• W2092181290 countsByYear W20921812902018 @default.
• W2092181290 countsByYear W20921812902019 @default.
• W2092181290 countsByYear W20921812902022 @default.
• W2092181290 countsByYear W20921812902023 @default.
• W2092181290 crossrefType "journal-article" @default.
• W2092181290 hasAuthorship W2092181290A5000955884 @default.
• W2092181290 hasAuthorship W2092181290A5003088706 @default.
• W2092181290 hasAuthorship W2092181290A5011864225 @default.
• W2092181290 hasAuthorship W2092181290A5018925205 @default.
• W2092181290 hasAuthorship W2092181290A5042786886 @default.
• W2092181290 hasAuthorship W2092181290A5043656018 @default.
• W2092181290 hasAuthorship W2092181290A5066326655 @default.
• W2092181290 hasAuthorship W2092181290A5068498276 @default.
• W2092181290 hasAuthorship W2092181290A5071636507 @default.
• W2092181290 hasAuthorship W2092181290A5079026897 @default.
• W2092181290 hasBestOaLocation W20921812901 @default.
• W2092181290 hasConcept C104317684 @default.
• W2092181290 hasConcept C127716648 @default.
• W2092181290 hasConcept C13121076 @default.
• W2092181290 hasConcept C170493617 @default.
• W2092181290 hasConcept C173803235 @default.
• W2092181290 hasConcept C200544954 @default.
• W2092181290 hasConcept C31519591 @default.
• W2092181290 hasConcept C501734568 @default.
• W2092181290 hasConcept C54355233 @default.
• W2092181290 hasConcept C69991583 @default.
• W2092181290 hasConcept C75563809 @default.
• W2092181290 hasConcept C84597430 @default.
• W2092181290 hasConcept C86803240 @default.
• W2092181290 hasConceptScore W2092181290C104317684 @default.
• W2092181290 hasConceptScore W2092181290C127716648 @default.
• W2092181290 hasConceptScore W2092181290C13121076 @default.
• W2092181290 hasConceptScore W2092181290C170493617 @default.
• W2092181290 hasConceptScore W2092181290C173803235 @default.
• W2092181290 hasConceptScore W2092181290C200544954 @default.
• W2092181290 hasConceptScore W2092181290C31519591 @default.
• W2092181290 hasConceptScore W2092181290C501734568 @default.
• W2092181290 hasConceptScore W2092181290C54355233 @default.
• W2092181290 hasConceptScore W2092181290C69991583 @default.
• W2092181290 hasConceptScore W2092181290C75563809 @default.
• W2092181290 hasConceptScore W2092181290C84597430 @default.
• W2092181290 hasConceptScore W2092181290C86803240 @default.
• W2092181290 hasIssue "2" @default.
• W2092181290 hasLocation W20921812901 @default.
• W2092181290 hasLocation W20921812902 @default.
• W2092181290 hasOpenAccess W2092181290 @default.
• W2092181290 hasPrimaryLocation W20921812901 @default.
• W2092181290 hasRelatedWork W1987585879 @default.
• W2092181290 hasRelatedWork W2050451211 @default.
• W2092181290 hasRelatedWork W2057188689 @default.
• W2092181290 hasRelatedWork W2092181290 @default.
• W2092181290 hasRelatedWork W2116572532 @default.
• W2092181290 hasRelatedWork W2198170080 @default.

• next